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With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders. 相似文献
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This article presents a case study of an accelerated cleanup conducted by EPA at the Adams Plating Company (APC) Superfund site near Lansing, Michigan. The APC site remediation was a Superfund EPA-lead project under the remedial program in Region 5. An accelerated cleanup was possible at the APC site by consistently identifying, evaluating, and implementing opportunities to streamline the remedial investigation (RI) and remedial design (RD) process. Streamlining opportunities were discovered and implemented in both the technical and administrative aspects of the project. Streamlining components used to accelerate the remedial process included: (1) extensive use of field screening techniques during the Phase II RI; (2) a focused feasibility study (FS) that evaluated only practical alternatives; (3) maintaining project momentum by initiating the RD concurrent with the issuance of the Record of Decision (ROD); (4) a highly accelerated RD with limited predesign work; (5) elimination of the transition period between RD and remedial action (RA) project phases; (6) frequent and effective communication, coordination, and cooperation between all parties involved (EPA, Michigan Department of Natural Resources (MDNR), technical contractor, PRC Environmental Management, Inc. (PRC), and the public); (7) maintaining a consistent project team throughout project duration; and (8) the setting of aggressive project goals. 相似文献
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Drivers under the age of 70 whose prior 4-year accident and conviction records showed no entries when examined 2 months prior to the date of expiration of their driver licenses were randomly assigned to either a group that renewed licenses in the normal manner or a group that was offered the opportunity to receive a 4-year license extension by mail. A related experiment involved comparing clean-record drivers of any age who were given a 2-year extension with a group of drivers required to renew in person. Examination of driver records 18 and 28 months subsequent to extension uncovered no deleterious effects of the program, while savings of roughly 3 million dollars annually are expected. Findings are tentative, however, until 4-year data can be collected. The report concludes that the extension program has been successful, that multiple extensions should be authorized and evaluated for drivers with continuing clean records, and that the present exclusion of drivers 70 and above does not appear to be defensible. 相似文献
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